Case Report: Ocular toxoplasmosis in a WHIM syndrome immunodeficiency patient [version 1; peer review: 2 approved]

Abstract

A patient with WHIM syndrome immunodeficiency presented with sudden painless right eye blindness associated with advanced retinal and optic nerve damage. Toxoplasma gondii was detected by PCR in vitreous fluid but not serum. The patient was treated with trimethoprim-sulfamethoxazole. Vision did not return; however, the infection did not spread to involve other sites. Toxoplasmosis is rare in primary immunodeficiency disorders and is the first protozoan infection reported in WHIM syndrome.